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rs794726814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794726814(-;-)
Make rs794726814(-;GGAATTTT)
Make rs794726814(GGAATTTT;GGAATTTT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991983
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794726814
ebirs794726814
HLIrs794726814
Exacrs794726814
Varsomers794726814
Maprs794726814
PheGenIrs794726814
hapmaprs794726814
1000 genomesrs794726814
hgdprs794726814
ensemblrs794726814
gopubmedrs794726814
geneviewrs794726814
scholarrs794726814
googlers794726814
pharmgkbrs794726814
gwascentralrs794726814
openSNPrs794726814
23andMers794726814
23andMe allrs794726814
SNP Nexus

SNPshotrs794726814
SNPdbers794726814
MSV3drs794726814
GWAS Ctlgrs794726814
Max Magnitude0
ClinVar
Risk rs794726814(GGAATTTT;GGAATTTT)
Alt rs794726814(GGAATTTT;GGAATTTT)
Reference rs794726814(;)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166848494_166848501dupAAAATTCC
CLNSRC Peking University
CLNACC RCV000180939.1,